Module 3: The Human-Mouse: Disease Connection in MGI

Clinical genetic research and translation tool

Options for beginning a search:

Gja8Mapk10Rsph9Il20raJak3Frg1

Visual display of associated phenotype and disease results

Mammalian (mouse) Phenotypes

Human disease(OMIM)

Click to drill-down for more precise MP and allele IDs

Click right side to view disease

Visual display of associated phenotype and disease results

Other tabs for Genes & Diseases lists (downloadable)

Genes tab: downloadable, find references and mouse models

Diseases tab: downloadable, find all gene associations in human and mouse

Search terms can be combined

Chr1:150000000-250000000

.

type “cleft palate” (matches whole) or

type cleft palate (matches as two terms)

or selectcleft palate Mammalian phenotype

or selectCleft Palate; CP [Cleft palate isolated, CPI] OMIM

Combined search results for region AND annotation

at least one mouse homolog genotype contains “cleft palate” (or child term) as an MP annotation

same MP genotype is a disease model, or human disease name/synonym contains “cleft palate”

Summary

The Human-Mouse: Disease connection allows rapid accession and association of gene-phenotype or gene-disease information

Allows clinical researchers with human data to perform functional or phenotypic annotation to a gene list

Straightforward discovery of mouse models

contact mgi-help@jax.org with any questions